Understanding Inclusion Body Myopathy, Paget's Disease, and Frontotemporal Dementia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on families with inherited inclusion body myopathy, Paget disease of bone, and frontotemporal dementia, collectively known as IBMPFD, which is linked to mutations in the VCP gene. Researchers aim to gather biological specimens, medical histories, and questionnaire data from participants who may have these conditions or a family history of them. The study will help elucidate how VCP gene mutations contribute to the associated muscle, bone, and cognitive issues. Some participants may be invited for additional testing at the University of California, Irvine, including MRI and bone scans.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study:

Muscle disorders considered include:

* Limb Girdle Muscular Dystrophy
* Myopathy
* Inclusion body myopathy
* FSH (Facioscapular muscular dystrophy) without the mutation
* Scapuloperoneal muscular dystrophy
* Amyotrophic Lateral Sclerosis
* Non specific muscular dystrophy

AND

* Bone disorders including:

  * Paget disease of bone
  * Fibrous dysplasia
  * Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)
  * Non-specific bone disease

Eligible participants must also be:

* Subjects must to 18 years or older
* Subjects must to able to give consent
* Adult family members or spouses over the age of 18 of the affected individuals

Exclusion Criteria:

* Under the age of 18.

Individuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing.

Those who are unable to provide consent for themselves will be excluded from participating in the study.

Where it's running

• University of California, Irvine
  Irvine, California, United States Recruiting

Study contacts

• Principal investigator: Virginia Kimonis, MD — University of California, Irvine
• Study coordinator: Virginia Kimonis, MD
• Email: vkimonis@uci.edu
• Phone: 949 824 0571

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.